10 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... vasculitis (100%) - Gastrointestinal ... and ankles) #HSP ... HenochScholeinPurpura #Pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
pathway (GI = gastrointestinal ... Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology
Diagnosis of IgA Vasculitis (Henoch-Schönlein Purpura) - French Vasculitis Study Group 

1) Suggestive clinical manifestations
patients - Gastrointestinal ... HenochSchonleinPurpura #HSP ... #Rheumatology #Peds
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
While the pathophysiology ... for the hip/knee ... theory is that hip ... PhysicalExam #Pediatrics #Peds
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21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Streptococcus pneumoniae (SP ... #OtitisMedia #pathophysiology ... symptoms #signs #peds